Asherson’s Syndrome

Asherson’s syndrome is an extremely rare autoimmune disorder characterized by the development, over a period of hours, days or weeks, of rapidly progressive blood clots affecting multiple organ systems of the body. Conditions such as infections, immunizations, wounds caused due to physical trauma and failure in the anticoagulation mechanism of the body usually act as “triggers”.

The syndrome is particularly common among patients with antiphospholipid syndrome who experience a cessation of the anticoagulation mechanism rleated to recurrent bleeding in the body. It is usually seen in patients who have previously suffered from a simple/classic episode of antiphospholipid syndrome. It is not known why patients of antiphospholipid syndrome often have the tendency to be “catapulted” into a serious or fatal multiorgan failure, while the same triggers in other individuals may only result in recurrent large vessel thrombosis. The symptoms are also aptly observed in patients during pregnancy or in the weeks after childbirth (puerperium) and may follow the HELLP syndrome or be associated with malignancies. Symptoms vary from case to case depending upon the specific organ systems involved. Asherson’s syndrome can rapidly result in life-threatening multiorgan failure.

Asherson’s syndrome is a severe variant of antiphospholipid syndrome (APS), an autoimmune disorder in which blood clots occur in relation to the presence of antiphospholipid antibodies in the body. Antibodies are specialized proteins produced by the body’s immune system to fight infection. In autoimmune disorders, antibodies mistakenly attack healthy tissue. In APS and Asherson’s syndrome, antibodies mistakenly attack certain proteins that bind to phospholipids, which are fat molecules that are involved in the proper function of cell membranes. Phospholipids are found throughout the body. The reason these antibodies attack these proteins and the process by which they cause blood clots to form is not known.

Asherson’s syndrome may occur in individuals who have primary or secondary APS or in individuals with lupus or other autoimmune disorders. In some cases, no previous history of these disorders may be present. The exact cause of Asherson’s syndrome is unknown.

Symptoms

Complications resulting from the development of numerous blood clots (thromboses) in the body generate the symptoms of Asherson's syndrome. Multiple blood clots can form in hours, days, or weeks, posing a life-threatening risk of multiorgan failure.

Depending on which organ systems are implicated, specific symptoms differ. Commonly afflicted organs include the kidneys, stomach, lungs, heart, skin, and central nervous system. Renal involvement can lead to kidney dysfunction and symptoms such as decreased urine output and high blood pressure (hypertension).

Blotchy reddish areas of discolored skin (livedo reticularis), bruising, and the loss of living tissue (gangrene) are possible side effects. Stroke (cerebral infarction), seizures, and a disorder characterized by altered brain structure and function are examples of symptoms related to the central nervous system(encephalopathy). If the heart is affected, symptoms may include heart valve inflammation and thickening (valvar heart disease), leading to complications including mitral valve regurgitation (MVR). Individuals who are affected may also experience chest pain (angina) and the risk of a heart attack (myocardial infarction).

Additional organ systems that may be affected by this syndrome are the gastrointestinal system (abdominal pain and cramping), the bone marrow (anemia and thrombocytopenia), and the adrenal and pituitary glands (hormone imbalances and low blood pressure).

Causes

As mentioned in the opening of the discussion, the exact cause that leads to Asherson’s syndrome is still not known. However, it is seen that antibodies that are produced to fight against ailments start fighting against the healthy tissues of the body. The antibodies that are also found in antiphospholipid syndrome start to attack the phospholipid fatty molecules that are present in the cell membranes. This antibody targets the blood proteins all over the body. Two most common proteins that get targeted are the beta 2 glycoprotein and the prothrombin. However, further research into this domain is required so that more can be known about the trigger factors that can lead to Asherson’s Syndrome

Treatment

A doctor will usually prescribe medication to thin the blood, to reduce the chance of clotting. The patient will normally need this medication for the rest of their life.

Possible combinations include aspirin with warfarin, or Coumadin, or possibly heparin. If warfarin does not work, the dose may be increased or heparin may be added.

The clotting action of anticoagulants can sometimes lead to a hemorrhage, or excessive bleeding.

Patients should seek medical help at once if they experience:

• blood in feces, urine, or vomit
• coughing up blood
• nosebleeds lasting longer than 10 minutes
• severe bruising

Patients who experience thrombosis will normally need to take heparin and warfarin. When the thrombosis clears, they will continue with warfarin.

Treatment in pregnancy

A woman with a diagnosis with APS should plan for pregnancy from before conception. Treatment will start at the beginning of pregnancy and finish after delivery.

In an unplanned pregnancy, the effectiveness of treatment may be reduced as it will not begin until several weeks after conception.

Treatment will normally be aspirin, heparin, or both, depending on previous clots of pregnancy complications. Warfarin can cause birth defects, and it is not used during pregnancy.

If the patient does not respond to this treatment, intravenous immunoglobulin infusions and corticosteroids, such as prednisone, may be prescribed.

If, by the third trimester, there are no problems, the heparin treatment may stop, but the aspirin treatment may have to continue until the end of the pregnancy.

Regular blood tests will need to continue to ensure the blood can still clot enough to stop bleeding if the patient bruises or cuts herself.

Diagnosis

A doctor will test for antiphospholipid syndrome if the patient has at least one episode of thrombosis or a pregnancy loss.

A blood test will show whether a person has abnormal antibodies.

Sometimes harmless antiphospholipid antibodies may develop for limited periods, because of an infection or some medication, so a second test will be needed to confirm the result.

If blood tests reveal abnormal antibodies, the doctor will assess the patient’s medical history to determine whether previous symptoms may have been caused by antiphospholipid syndrome.

Risk factors

Genetics factors appear to affect the likelihood of having APS. If a family member has the syndrome, the individual will have a higher risk of developing it themselves.

Other risk factors include:

• lupus, Sjogren’s syndrome, or another autoimmune disorder
• hepatitis C, syphilis, cytomegalovirus (CMV), the parvovirus B19 and some other infections
• some medications, including hydralazine, used to treat hypertension, and some anti-epileptic drugs
• Some people have the antibodies but do not develop signs or symptoms. However, certain triggers can cause the condition to develop in these people.

Triggers include:

• obesity
• pregnancy
• high cholesterol levels
• high blood pressure
• hormone replacement therapy (HRT)
• oral contraceptives
• tobacco smoking
• staying still for too long, for example, during a long flight
• a surgical procedure
• Young and middle-aged women are more likely to develop APS, but it can affect either gender and at any age.